Canonical Allele Identifier: PA915959783
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 661945
ClinVar RCV Id: RCV000819472 RCV001193544
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Thr1572Ala
CA392352884
NM_000138.5:c.4714A>G